Open Access
Resistance to thyroid hormone caused by heterozygous mutation of thyroid hormone receptor B gene c.G1378A: Report of one Chinese pedigree and literature review
Author(s) -
Huang Bingkun,
Liu Changqin,
Xiao Fangsen,
Huang Peiying,
Zeng Jinyang,
Chen Zheng,
Lin Mingzhu,
Li Xuejun
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3497
Subject(s) - thyroid , hormone , medicine , thyroid hormone receptor , thyroid hormone receptor beta , hormone receptor , mutation , gene , endocrinology , genetics , biology , cancer , breast cancer
Abstract The same thyroid hormone receptor B gene (THRB) mutation led to thyroid hormone resistance with different clinical manifestations in the kindreds.